Introduction

Sickle cell disease (SCD) is one of the most common monogenic disorders globally with an autosomal recessive inheritance (Serjeant and Serjeant 1992). Homozygous sickle cell (SS) disease occurs in an estimated 312,000 births annually (McGann 2014), and all forms of sickle cell disease are likely to exceed 400,000 births annually in the world (Serjeant et al. 2017). SCD has a high prevalence in India, especially in the tribal populations, and poses a considerable health burden (Rao 1988; Jain et al. 2012). Although it is now well established that Orissa is at higher risk for sickle cell and thalassemia hemoglobinopathies, there is a lack of appropriate approach to initiate a large-scale population-based study with a dedicated genetic counseling aim (Mohanty and Das 2011). Koraput district is one of the underdeveloped districts of Odisha and predominantly inhabited by tribal people. Moreover, earlier studies suggested a high prevalence of SCD in this district (Bindhani and Nayak 2018). Therefore, Koraput district was considered for the present study.

The objective of the present study is to explore the knowledge, awareness, and attitude of premarital genetic counseling and screening for sickle cell hemoglobin among individuals of Koraput district.

Materials and methods

A pilot survey was carried out in 2 villages of Koraput district of Odisha. Furthermore, snowball sampling method was used with the help of Anganwadi workers and villagers to identify other villages having a high number of SCD patients. Villages (N = 7) that were remote and where medical facilities were not easily accessible were finally chosen for the present study. In total, 9 villages were selected for the present study.

A descriptive cross-sectional study design was carried out among 152 individuals of both sexes (males = 70 and females = 82) and aged between 4 and 48 years, who were recruited by using a multistage purposive sampling technique. Of the total participants, 43 individuals were affected with SCD and remaining individuals were their family members and relatives. Also, a qualitative case study approach has been employed among 43 SCD-affected individuals, who were confirmed as sickle cell homozygous through their medical cards, in the age group of 4–18 in Koraput district of Odisha.

Data was collected using multidimensional interviews, and pre-tested and self-administered schedules. Based on the previous literature, scoring scales and schedules were developed and modified for the assessment of knowledge, awareness, and attitude. In this study, the overall average score of < 50% was considered as poor and ≥ 50% considered as good. Data were analyzed using SPSS-20 software. Frequency distribution tables were constructed; cross-tabulations were done to examine the relationship between the categorical variables. All statistical analysis was set at 5% level of significance, p ≤ 0.05 (i.e., 95% confidence level).

Results

The purpose of this study was to explore the knowledge, awareness, and attitude of premarital genetic counseling and screening for sickle cell hemoglobin among individuals of Koraput district. Of the 152 subjects recruited, 92.76% were heard about sickle cell anemia and 30.26% have indicated on hearing of premarital screening. Analysis to understand the extent of knowledge, awareness, and attitude towards premarital screening of various diseases which focused on sickle cell disease reveals that only 30% of the patients and their family members were aware of premarital screening for SCD. This analysis reveals that people are more aware of screening of SCD before marriage than screening after marriage; however, the percentage of the former category is not high (about 29%). Around 32% of the total subjects believed that premarital screening is not only for SCD but also for other various diseases, whereas 10% of them believed that premarital screening is exclusively for SCD. About 58% of them have no idea or opinion on the premarital screening of diseases. Regarding diseases other than SCD, the majority of the participants were aware of HIV (almost 40%), and both HIV and hepatitis (about 44%). Almost 60% of the individuals believed that premarital screening can prevent SCD; however, 31% did not have any opinion. Concerning the premarital screening in the prevention of SCD, 90% have the opinion that carriers cannot transfer the disease and 80% believed that sickle cell screening knowledge helps in avoiding incompatible partners.

Though the majority of them are aware of disease and trait, 100% of them are not aware of disease on genetic level, i.e., none of them knows their genotypes. Also, the present study found that only about 7% of the married respondents have been tested for any disease before marriage. About 33% of the SCD patients relied on traditional medicine, and about 42% relied on both traditional and allopathic, whereas only about 26% depends upon allopathic (Table 1).

Table 1 Sex-wise distribution of assessment of knowledge, awareness, and attitude of premarital screening
Full size table

Also, this study found that the overall good knowledge, attitude, and awareness among patients (72.09%) is significantly higher than their family members (33.9%) (p < 0.001) (Table 2).

Table 2 Graded score for knowledge, attitude, and awareness of the patients and their family members
Full size table

Discussion

Based on the findings, it is evident that many individuals still lack good knowledge, attitude, and awareness concerning premarital screening and SCD in the studied area. Many shortcomings have been addressed in all three aspects. Although most of the participants in this study have heard about SCD (about 93%), the majority (about 70%) of them were unaware of premarital screening. This corroborates with findings of earlier studies (Al-Qattan et al. 2019; Bindhani and Nayak 2018).

The present study found that all the participants (100%) are not aware of their hemoglobin genotypes. Similar studies have reported that more than half of married couples enter into marriage unaware of their hemoglobin genotypes (Odunvbun et al. 2008; Acharya et al. 2009; Ameade et al. 2015). The findings reveal that more than 50% of the participants reported that the decision of marriage rests upon their family members and community regardless of their sickle cell hemoglobin status. Almost 30% of the individuals had a strong opinion that sickle cell carriers should not marry each other. About 88% of the participants believed that the government should prohibit marriage between incompatible couples. This supports with findings of previous studies (Mason et al. 2016; Ugwu 2016). Only 2.63% disagree with the statement that the government should prohibit marriage between incompatible couples, out of which some believed that subjecting self to genetic counseling before marriage demonstrated a lack of faith in God. This is similar to the findings reported from other studies where the majority of the respondents correctly believed that sickle cell was inherited from parents rather than from any supernatural phenomena (Olakunle et al. 2013; Treadwell et al. 2006). Out of 109 married respondents, the majority (92.89%) of the recruited participants have not tested for the disease before marriage. And 58% of the total participants showed a positive attitude of the fact that they will go for sickle cell screening, which corroborates with previous studies (Ugwu 2016; Al-Farsi et al. 2014). This study also reveals that continuous and extensive hospitalizations and health care services, and inconsistent insurance coverage were major factors of economic burdens for the families of SCD patients. Similar findings based on the economic burdens of SCD patients to the family were also reported (Olatunya et al. 2015; Adegoke et al. 2014). The present data explores that 32.56% and 41.86% of the subject depends on traditional medical practice and both traditional and allopathic respectively. According to them, traditional medicines are low cost and effective, and hence, they were more inclined towards it.

The understanding level is significantly higher among SCD-affected individuals than their family members and relatives (p < 0.001). This indicates that patients themselves were much aware of the disease during the process of diagnosis. Furthermore, educational level is also found to be positively associated with the knowledge, awareness, and attitude towards premarital screening. All other variables were not significantly different from each other (p > 0.05). Despite poor knowledge of SCD among the subjects, the majority (82.24%) agreed to encourage others to screen for SCD. In other words, the participants exhibited a high level of acceptability for premarital screening, genetic counseling, and mandatory implementation of screening programs by the government. This shows the understanding of the potential importance and benefits of premarital screening as a preventive measure to control SCD, which also supports earlier findings (Laskey et al. 2003). In general, most of the participants showed a positive attitude towards premarital screening for sickle cell hemoglobinopathy indicating the work of earlier studies (Olatona et al. 2012; Ameade et al. 2015).

Conclusion and suggestions

Despite various government-funded screening and counseling programs, there appeared to be the awareness, the socioeconomic, and the biological burdens of SCD are not widely known to the communities where the prevalence of sickle cell hemoglobinopathy is high. In developing countries like India where the illiteracy rate is high and cultural norms are stronger, just screening and counseling may not be very effective in reducing the burden of SCD. Further research and awareness programs regarding genetic diseases specifically in terms of SCD should be initiated.